Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production

@article{Wajner1997NeurologicalDI,
  title={Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production},
  author={Moacir Wajner and Janice Carneiro Coelho},
  journal={Journal of Inherited Metabolic Disease},
  year={1997},
  volume={20},
  pages={761-768}
}
Methylmalonic acidaemia is an inherited metabolic disorder caused by a severe deficiency of the activity of the enzyme L-methylmalonyl-CoA mutase or its cofactor 5′-deoxyadenosylcobalamin, resulting in tissue accumulation of large quantities of methylmalonic acid. Among the various clinical features, neurological symptoms are frequently observed. Patients may present cerebral atrophy and basal ganglia abnormalities are common. In the present report, we update the current knowledge on the… CONTINUE READING

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